Bone Marrow Transplant Conquers Over Rare Skin Disorder

Nate Liao,2, was enveloped in rolls of bandages all over, a few months ago. He and his older brother Jake have a rare and deadly genetic disease that prevents their skin from attaching to the body.

This genetic disorder is called epidermolysis bullose (EB) and is very rare. And because of this disorder, Tennis ball sized blisters would erupt on the boy's skin with the slightest of frictions. He would frequently rip his esophagus if he swallowed anything other than baby food.

After a seven month long experimental therapy at the University of Minnesota Children's Hospital, Nate is showing improvement. He can eat normally and wears a regular T-shirt now. He can be without his bandages for few hours a day.

Doctors are feeling great about curing the disorder. John Wagner, a hematologist at University of Minnesota Medical School supervised Nate's bone marrow transplant from his healthy sibling, Julian. This transplant was done to give Nate a vital protein which he was born without.This protein called collagen VII glues the outermost layer of skin to the layer underneath.

After the transplant, it was assumed that the stem cells from bone marrow will move to skin and make collagen VII. Angela Christiano of Columbia University identified the gene for Nate's disease and collaborated on his therapy.

The procedure was not easy. Before the transplant, he was administered intensive chemotherapy to kill off immune systemdefine and prevent his body from rejecting his brother's cells since he had so many open wounds; risk of infection was very high. His brother's blood was a perfect match.

Tests conducted on Nate later, show that his body is making collagen VII. The bone marrow transplant has treated Nate of his disorder.

Nate recovered after the operation and has emerged a healthier toddler now. He has gained weight; his face has plumped up and now has very few blisters. His mother Theresa Liao, says his skin was more like cellophane earlier but now it is quite normal. He can try to play normally now with nothing to worry.

Wagner anticipates that Nate's skin will continue making collagen VII over time though it won’t treat the scars. But as he grows his scars will become proportionally smaller and risk of infection will be lower. Doctors hope Nate will be spared from skin cancerdefine which supposedly kills many in their 20s.

Nate's older brother Jake, 5, has the same disorder and is undergoing a bone marrow transplant. Jake's case is complicated as he could not find a perfectly matched donor, Wagner says. By now he has lost his fingertips and his fingers have fused together. If the transplant cures protein production, specialists will treat this damage, Wagner says.

Jonathan Vogel, a senior investigator in dermatology at the National Cancer Institute, warns that other patients may not respond as well as Nate. Doctors have to wait to see if his condition improves.

But Theresa Liao says the treatment is an answer to her prayer. "I made a promise to do whatever I could to make this go away. I'm doing my best to keep that promise" she says.